Loading…
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
Beunders, Gea, Voorhoeve, Els, Golzio, Christelle, Pardo, Luba M., Rosenfeld, Jill A., Talkowski, Michael E., Simonic, Ingrid, Lionel, Anath C., Vergult, Sarah, Pyatt, Robert E., van de Kamp, Jiddeke, Nieuwint, Aggie, Weiss, Marjan M., Rizzu, Patrizia, Verwer, Lucilla E.N.I., van Spaendonk, Rosalina M.L., Shen, Yiping, Wu, Bai-lin, Yu, Tingting, Yu, Yongguo, Chiang, Colby, Gusella, James F., Lindgren, Amelia M., Morton, Cynthia C., van Binsbergen, Ellen, Bulk, Saskia, van Rossem, Els, Vanakker, Olivier, Armstrong, Ruth, Park, Soo-Mi, Greenhalgh, Lynn, Maye, Una, Neill, Nicholas J., Abbott, Kristin M., Sell, Susan, Ladda, Roger, Farber, Darren M., Bader, Patricia I., Cushing, Tom, Drautz, Joanne M., Konczal, Laura, Nash, Patricia, de Los Reyes, Emily, Carter, Melissa T., Hopkins, Elizabeth, Marshall, Christian R., Osborne, Lucy R., Gripp, Karen W., Thrush, Devon Lamb, Hashimoto, Sayaka, Gastier-Foster, Julie M., Astbury, Caroline, Ylstra, Bauke, Meijers-Heijboer, Hanne, Posthuma, Danielle, Menten, Björn, Mortier, Geert, Scherer, Stephen W., Eichler, Evan E., Girirajan, Santhosh, Katsanis, Nicholas, Groffen, Alexander J., Sistermans, Erik A.
Published in American journal of human genetics (07.02.2013)
Published in American journal of human genetics (07.02.2013)
Get full text
Journal Article
Web Resource
Loading…
Temperature-dependent regulation of flowering by antagonistic FLM variants
Posé, David, Verhage, Leonie, Ott, Felix, Yant, Levi, Mathieu, Johannes, Angenent, Gerco C., Immink, Richard G. H., Schmid, Markus
Published in Nature (London) (21.11.2013)
Published in Nature (London) (21.11.2013)
Get full text
Journal Article
Loading…
Loading…
Characterization of the N- and C-terminal domain interface of the three main apoE isoforms: A combined quantitative cross-linking mass spectrometry and molecular modeling study
Mohammadi, Azadeh, Deroo, Stéphanie, Leitner, Alexander, Stengel, Florian, Krammer, Eva-Maria, Aebersold, Ruedi, Prévost, Martine, Raussens, Vincent
Published in Biochimica et biophysica acta. General subjects (01.04.2025)
Published in Biochimica et biophysica acta. General subjects (01.04.2025)
Get full text
Journal Article
Loading…
The Proteoform Landscape of Tau from the Human Brain
Xu, Tian, Su, Taojunfeng, Soye, Benjamin J. Des, Kandi, Soumya, Huang, Che-Fan, Wilkins, John T., Castellani, Rudolph J., Kafader, Jared O., Patrie, Steven M., Vassar, Robert, Kelleher, Neil L.
Published in Journal of proteome research (06.06.2025)
Published in Journal of proteome research (06.06.2025)
Get full text
Journal Article
Loading…
Human serum albumin isoforms: Genetic and molecular aspects and functional consequences
Kragh-Hansen, Ulrich, Minchiotti, Lorenzo, Galliano, Monica, Peters, Theodore
Published in Biochimica et biophysica acta (01.12.2013)
Published in Biochimica et biophysica acta (01.12.2013)
Get full text
Journal Article
Loading…
A Phase 1 Trial of MSP2-C1, a Blood-Stage Malaria Vaccine Containing 2 Isoforms of MSP2 Formulated with Montanide® ISA 720
McCarthy, James S., Marjason, Joanne, Elliott, Suzanne, Fahey, Paul, Bang, Gilles, Malkin, Elissa, Tierney, Eveline, Aked-Hurditch, Hayley, Adda, Christopher, Cross, Nadia, Richards, Jack S., Fowkes, Freya J. I., Boyle, Michelle J., Long, Carole, Druilhe, Pierre, Beeson, James G., Anders, Robin F.
Published in PloS one (19.09.2011)
Published in PloS one (19.09.2011)
Get full text
Journal Article
Loading…
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice
Wein, Nicolas, Vulin, Adeline, Falzarano, Maria S, Szigyarto, Christina Al-Khalili, Maiti, Baijayanta, Findlay, Andrew, Heller, Kristin N, Uhlén, Mathias, Bakthavachalu, Baskar, Messina, Sonia, Vita, Giuseppe, Passarelli, Chiara, Passarelli, Simona, Bovolenta, Matteo, Neri, Marcella, Gualandi, Francesca, Wilton, Steve D, Rodino-Klapac, Louise R, Yang, Lin, Dunn, Diane M, Schoenberg, Daniel R, Weiss, Robert B, Howard, Michael T, Ferlini, Alessandra, Flanigan, Kevin M
Published in Nature medicine (01.09.2014)
Published in Nature medicine (01.09.2014)
Get full text
Journal Article
Loading…
Loading…
Loading…
A unique glycan-isoform of transferrin in cerebrospinal fluid: A potential diagnostic marker for neurological diseases
Hoshi, Kyoka, Matsumoto, Yuka, Ito, Hiromi, Saito, Kiyoshi, Honda, Takashi, Yamaguchi, Yoshiki, Hashimoto, Yasuhiro
Published in Biochimica et biophysica acta. General subjects (01.10.2017)
Published in Biochimica et biophysica acta. General subjects (01.10.2017)
Get full text
Journal Article
Loading…
Total ApoE and ApoE4 Isoform Assays in an Alzheimer's Disease Case-control Study by Targeted Mass Spectrometry (n = 669): A Pilot Assay for Methionine-containing Proteotypic Peptides
Simon, Romain, Girod, Marion, Fonbonne, Catherine, Salvador, Arnaud, Clément, Yohann, Lantéri, Pierre, Amouyel, Philippe, Lambert, Jean Charles, Lemoine, Jérôme
Published in Molecular & cellular proteomics (01.11.2012)
Published in Molecular & cellular proteomics (01.11.2012)
Get full text
Journal Article
Loading…
Disease-specific biases in alternative splicing and tissue-specific dysregulation revealed by multitissue profiling of lymphocyte gene expression in type 1 diabetes
Newman, Jeremy R.B., Conesa, Ana, Mika, Matthew, New, Felicia N., Onengut-Gumuscu, Suna, Atkinson, Mark A., Rich, Stephen S., McIntyre, Lauren M., Concannon, Patrick
Published in Genome research (01.11.2017)
Published in Genome research (01.11.2017)
Get full text
Journal Article
Loading…
Selective Targeting of a Disease-Related Conformational Isoform of Macrophage Migration Inhibitory Factor Ameliorates Inflammatory Conditions
Thiele, Michael, Kerschbaumer, Randolf J, Tam, Frederick W K, Völkel, Dirk, Douillard, Patrice, Schinagl, Alexander, Kühnel, Harald, Smith, Jennifer, McDaid, John P, Bhangal, Gurjeet, Yu, Mei-Ching, Pusey, Charles D, Cook, H Terence, Kovarik, Josef, Magelky, Erica, Bhan, Atul, Rieger, Manfred, Mudde, Geert C, Ehrlich, Hartmut, Jilma, Bernd, Tilg, Herbert, Moschen, Alexander, Terhorst, Cox, Scheiflinger, Friedrich
Published in The Journal of immunology (1950) (01.09.2015)
Published in The Journal of immunology (1950) (01.09.2015)
Get full text
Journal Article
Loading…
Mass spectrometric characterization of human serum albumin dimer: A new potential biomarker in chronic liver diseases
Naldi, Marina, Baldassarre, Maurizio, Nati, Marina, Laggetta, Maristella, Giannone, Ferdinando Antonino, Domenicali, Marco, Bernardi, Mauro, Caraceni, Paolo, Bertucci, Carlo
Published in Journal of pharmaceutical and biomedical analysis (10.08.2015)
Published in Journal of pharmaceutical and biomedical analysis (10.08.2015)
Get full text
Journal Article
Loading…
Loading…
Alternative splicing of Tcf7l2 transcripts generates protein variants with differential promoter-binding and transcriptional activation properties at Wnt/β-catenin targets
Weise, Andreas, Bruser, Katja, Elfert, Susanne, Wallmen, Britta, Wittel, Yvonne, Wöhrle, Simon, Hecht, Andreas
Published in Nucleic acids research (01.04.2010)
Published in Nucleic acids research (01.04.2010)
Get full text
Journal Article
Loading…
The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway
Collin, Gayle B., Marshall, Jan D., King, Benjamin L., Milan, Gabriella, Maffei, Pietro, Jagger, Daniel J., Naggert, Jürgen K.
Published in PloS one (31.05.2012)
Published in PloS one (31.05.2012)
Get full text
Journal Article
Loading…
Comparison of type I, type III and type VI collagen binding assays in diagnosis of von Willebrand disease
FLOOD, V. H., GILL, J. C., CHRISTOPHERSON, P. A., WREN, J. S., FRIEDMAN, K. D., HABERICHTER, S. L., HOFFMANN, R. G., MONTGOMERY, R. R.
Published in Journal of thrombosis and haemostasis (01.07.2012)
Published in Journal of thrombosis and haemostasis (01.07.2012)
Get full text
Journal Article
Loading…
Alternative Splicing of a Protein Domain Indispensable for Function of Transient Receptor Potential Melastatin 3 (TRPM3) Ion Channels
Frühwald, Julia, Camacho Londoño, Julia, Dembla, Sandeep, Mannebach, Stefanie, Lis, Annette, Drews, Anna, Wissenbach, Ulrich, Oberwinkler, Johannes, Philipp, Stephan E.
Published in The Journal of biological chemistry (26.10.2012)
Published in The Journal of biological chemistry (26.10.2012)
Get full text
Journal Article